Canonical Allele Identifier: CA279239080

Gene: TUFM

Linked Data

• dbSNP Id: rs993567627
• MyVariant Identifiers: chr16:g.28857081_28857082del (hg19) ; chr16:g.28845760_28845761del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28845761_28845762del , CM000678.2:g.28845761_28845762del	GRCh38
NC_000016.9:g.28857082_28857083del , CM000678.1:g.28857082_28857083del	GRCh37
NC_000016.8:g.28764583_28764584del	NCBI36
NG_008964.1:g.5648_5649del
NG_029706.2:g.4162_4163del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313511.8:c.247+151_247+152del MANE Select	ENSP00000322439.3:n.247+151_247+152del
ENST00000313511.7:c.247+151_247+152del	ENSP00000322439.3:n.247+151_247+152del
ENST00000565012.1:c.247+151_247+152del	ENSP00000455007.1:n.247+151_247+152del
NM_003321.4:c.247+151_247+152del	NP_003312.3:n.247+151_247+152del
XM_011545928.1:c.247+151_247+152del	XP_011544230.1:n.247+151_247+152del
NM_001365360.1:c.247+151_247+152del	NP_001352289.1:n.247+151_247+152del
NM_003321.5:c.247+151_247+152del MANE Select	NP_003312.3:n.247+151_247+152del
NM_001365360.2:c.247+151_247+152del	NP_001352289.1:n.247+151_247+152del